Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia
Abstract Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues. To determine the population allelic frequency of the MPS complex variants in a population without clinical and molecular diagnosis of MPS. An...
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| Format: | Article |
| Language: | English |
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SciELO
2021-08-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100322&tlng=en |
| _version_ | 1818947231057707008 |
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| author | Lina Johanna Moreno Giraldo José María Satizabal Adalberto Sánchez Gómez |
| author_facet | Lina Johanna Moreno Giraldo José María Satizabal Adalberto Sánchez Gómez |
| author_sort | Lina Johanna Moreno Giraldo |
| collection | DOAJ |
| description | Abstract Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues. To determine the population allelic frequency of the MPS complex variants in a population without clinical and molecular diagnosis of MPS. An observational descriptive study was carried out where the allelic frequency of variants presents in the IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1 genes was determined by means of the sequencing of 320 exomes from patients without a clinical diagnosis of MPS; the results were tabulated, and allelic frequency formulas were used to determine the values associated with each of the genes. 509 alleles associated with the MPS complex were reported, of which 262 have not been previously reported. Genes with the most frequent allelic presence were IDUA, GLB1 and GALNS, involved in MPS I and MPS IV A / B. The total frequencies ranged between 0.00393 (2 alleles) and 0.47937 (248 alleles). These studies make it possible to determine polymorphisms that circulate in the country, present in patients not affected with MPS, allowing to expand the knowledge about the characteristics of the alleles that are present in affected patients. |
| first_indexed | 2024-12-20T08:27:37Z |
| format | Article |
| id | doaj.art-62cc1ed7053d4561895e22f5b0e6cc91 |
| institution | Directory Open Access Journal |
| issn | 2326-4594 |
| language | English |
| last_indexed | 2024-12-20T08:27:37Z |
| publishDate | 2021-08-01 |
| publisher | SciELO |
| record_format | Article |
| series | Journal of Inborn Errors of Metabolism and Screening |
| spelling | doaj.art-62cc1ed7053d4561895e22f5b0e6cc912022-12-21T19:46:48ZengSciELOJournal of Inborn Errors of Metabolism and Screening2326-45942021-08-01910.1590/2326-4594-jiems-2021-0021Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern ColombiaLina Johanna Moreno Giraldohttps://orcid.org/0000-0002-2182-3757José María Satizabalhttps://orcid.org/0000-0002-0317-6664Adalberto Sánchez GómezAbstract Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues. To determine the population allelic frequency of the MPS complex variants in a population without clinical and molecular diagnosis of MPS. An observational descriptive study was carried out where the allelic frequency of variants presents in the IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1 genes was determined by means of the sequencing of 320 exomes from patients without a clinical diagnosis of MPS; the results were tabulated, and allelic frequency formulas were used to determine the values associated with each of the genes. 509 alleles associated with the MPS complex were reported, of which 262 have not been previously reported. Genes with the most frequent allelic presence were IDUA, GLB1 and GALNS, involved in MPS I and MPS IV A / B. The total frequencies ranged between 0.00393 (2 alleles) and 0.47937 (248 alleles). These studies make it possible to determine polymorphisms that circulate in the country, present in patients not affected with MPS, allowing to expand the knowledge about the characteristics of the alleles that are present in affected patients.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100322&tlng=enComputational BiologyExome sequencingMucopolysaccharidosis ComplexLysosomal Storage DiseasesAllelic Frequency |
| spellingShingle | Lina Johanna Moreno Giraldo José María Satizabal Adalberto Sánchez Gómez Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia Journal of Inborn Errors of Metabolism and Screening Computational Biology Exome sequencing Mucopolysaccharidosis Complex Lysosomal Storage Diseases Allelic Frequency |
| title | Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia |
| title_full | Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia |
| title_fullStr | Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia |
| title_full_unstemmed | Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia |
| title_short | Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia |
| title_sort | determination of the population allelic frequency of the variants of the mps complex in southwestern colombia |
| topic | Computational Biology Exome sequencing Mucopolysaccharidosis Complex Lysosomal Storage Diseases Allelic Frequency |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100322&tlng=en |
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